Article
Coexistence of Gilbert syndrome with hereditary haemolytic anaemias.
Journal of clinical pathology - 1 Jul 2012
Rawa Katarzyna, Adamowicz-Salach Anna, Matysiak Michal, Trzemecka Anna, Burzynska Beata
Abstract excerpt
BACKGROUND: Gilbert syndrome is an inherited disease characterised by mild unconjugated hyperbilirubinaemia caused by mutations in UGT1A1 gene which lead to decreased activity of UDP-glucuronosyltransferase 1A1. The most frequent genetic defect is a homozygous TA dinucleotide insertion in the regulatory TATA box in the UGT1A1 gene promoter. METHODS AND RESULTS: 182 Polish healthy individuals and 256 patients with...
Topics
- Anemia, Hemolytic, Congenital
- Case-Control Studies
- Comorbidity
- Genotype
- Gilbert Disease
- Glucuronosyltransferase
- Humans
- Poland
- Polymorphism, Genetic
- Prevalence
